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Detection of genomic aberrations in molecularly defined Burkitt's lymphoma by array-based, high resolution, single nucleotide polymorphism analysis

机译:通过基于阵列的高分辨率单核苷酸多态性分析检测分子定义的伯基特氏淋巴瘤中的基因组畸变

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摘要

The present findings suggest that uniparental disomies do not play a major role in the pathogenesis of Burkitt's lymphoma, whereas some genes may contribute to the development of this lymphoma through gene dosage effects. Amplifications of the polymerase iota gene may be functionally linked with increased genomic alterations in Burkitt's lymphoma. The pattern and rarity of chromosomal changes detectable, even at the high resolution employed here, together with aberrations of genes regulating MYC activity, support the hypothesis that deregulation of the MYC pathway is the major force driving the pathogenesis of Burkitt's lymphoma, but show that this deregulation is more complex than previously known.
机译:目前的发现表明,单亲二代体在伯基特氏淋巴瘤的发病机理中不发挥主要作用,而某些基因可能通过基因剂量效应促进这种淋巴瘤的发展。聚合酶iota基因的扩增可能与伯基特氏淋巴瘤的基因组改变增加在功能上相关。即使在此处采用高分辨率,也可检测到染色体变化的模式和稀有性,再加上调节MYC活性的基因畸变,支持了以下假设:MYC通路的失调是驱动Burkitt淋巴瘤发病机理的主要力量,但证明了这一点。放松管制比以前已知的更为复杂。

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